Mutagenetix > Incidental Mutation

Incidental Mutation 'R8368:Dip2b'

646272

Institutional Source

Beutler Lab

Gene Symbol

Dip2b

Ensembl Gene

ENSMUSG00000023026

Gene Name

disco interacting protein 2 homolog B

Synonyms

MMRRC Submission

067738-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.615) question?

Stock #

R8368 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99936545-100117354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100052124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 242 (S242P)

Ref Sequence

ENSEMBL: ENSMUSP00000097777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023768] [ENSMUST00000100203]

AlphaFold

Q3UH60

Predicted Effect

probably benign
Transcript: ENSMUST00000023768

SMART Domains

Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	109	584	9.5e-26	PFAM
Pfam:AMP-binding	760	1235	1.2e-52	PFAM
low complexity region	1299	1311	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100203
AA Change: S242P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: S242P

Domain	Start	End	E-Value	Type
DMAP_binding	12	130	1e-42	SMART
low complexity region	152	168	N/A	INTRINSIC
low complexity region	181	192	N/A	INTRINSIC
Pfam:AMP-binding	341	817	2e-26	PFAM
Pfam:AMP-binding	993	1468	1.8e-64	PFAM
low complexity region	1532	1544	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	T	15: 76,619,455 (GRCm39)	S710T	probably damaging	Het
Asb10	A	C	5: 24,744,615 (GRCm39)	I193S	probably benign	Het
C2cd6	A	G	1: 59,133,820 (GRCm39)	L67P	probably benign	Het
Ccdc14	T	C	16: 34,543,742 (GRCm39)	L748P	probably benign	Het
Cers4	T	G	8: 4,565,698 (GRCm39)	V48G	probably benign	Het
Chrna10	T	C	7: 101,764,223 (GRCm39)	T54A	probably benign	Het
Fam151a	A	G	4: 106,604,190 (GRCm39)	T325A	probably benign	Het
Gm21190	A	T	5: 15,729,848 (GRCm39)	S257T	possibly damaging	Het
Gm49368	T	C	7: 127,713,921 (GRCm39)	S909P	probably benign	Het
Gm5150	C	A	3: 16,044,902 (GRCm39)	V108F	probably damaging	Het
Gsdmc2	G	A	15: 63,696,902 (GRCm39)	T423I	probably damaging	Het
Hsf2	T	A	10: 57,388,241 (GRCm39)	C501S	probably damaging	Het
Igf1r	A	G	7: 67,836,796 (GRCm39)	N551D	probably benign	Het
Kctd3	G	A	1: 188,704,404 (GRCm39)	T789I	probably benign	Het
Lad1	A	G	1: 135,759,264 (GRCm39)	E474G	probably damaging	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Magi3	A	T	3: 104,002,379 (GRCm39)		probably null	Het
Nrdc	A	G	4: 108,870,895 (GRCm39)	D174G	probably benign	Het
Nrxn3	T	A	12: 90,298,815 (GRCm39)	Y445*	probably null	Het
Otol1	A	G	3: 69,935,199 (GRCm39)	Y397C	probably damaging	Het
Pkd2	G	T	5: 104,607,653 (GRCm39)	E51*	probably null	Het
Rad21l	A	G	2: 151,495,390 (GRCm39)	V431A	probably benign	Het
Rad50	A	G	11: 53,574,155 (GRCm39)	L694S	possibly damaging	Het
Rasal1	A	G	5: 120,809,615 (GRCm39)	S507G	probably damaging	Het
Ros1	T	A	10: 51,940,833 (GRCm39)	D2162V	probably damaging	Het
Samd7	A	T	3: 30,819,574 (GRCm39)	D441V	probably damaging	Het
Senp1	T	C	15: 97,943,255 (GRCm39)	S623G	probably damaging	Het
Shld1	T	C	2: 132,592,433 (GRCm39)	I160T	probably benign	Het
Slc23a3	G	T	1: 75,106,281 (GRCm39)	P313T	probably damaging	Het
Slc66a2	T	C	18: 80,334,873 (GRCm39)	S231P	probably benign	Het
Stab1	T	C	14: 30,870,368 (GRCm39)	D1320G	possibly damaging	Het
Tdpoz7	A	G	3: 93,979,893 (GRCm39)	F20S	probably damaging	Het
Tinf2	T	C	14: 55,917,030 (GRCm39)	T372A	probably damaging	Het
Trim45	A	G	3: 100,830,672 (GRCm39)	T149A	possibly damaging	Het
Trim63	TGAGGAGGAGGAGGAGGAGGAG	TGAGGAGGAGGAGGAGGAG	4: 134,055,017 (GRCm39)		probably benign	Het
Unc13c	C	T	9: 73,838,070 (GRCm39)	S927N	probably benign	Het
Uqcrfs1	C	A	13: 30,724,799 (GRCm39)	G247V	probably damaging	Het
Zfp143	A	T	7: 109,682,455 (GRCm39)	N342I	probably damaging	Het

Other mutations in Dip2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Dip2b	APN	15	100,072,382 (GRCm39)	missense	probably damaging	1.00
IGL01716:Dip2b	APN	15	100,107,517 (GRCm39)	missense	probably benign	0.00
IGL01893:Dip2b	APN	15	100,069,101 (GRCm39)	splice site	probably benign
IGL01915:Dip2b	APN	15	100,076,392 (GRCm39)	missense	probably damaging	1.00
IGL02125:Dip2b	APN	15	100,084,131 (GRCm39)	missense	possibly damaging	0.60
IGL02200:Dip2b	APN	15	100,049,083 (GRCm39)	missense	possibly damaging	0.93
IGL02506:Dip2b	APN	15	100,055,162 (GRCm39)	missense	probably damaging	1.00
IGL02571:Dip2b	APN	15	100,055,766 (GRCm39)	missense	possibly damaging	0.93
IGL02706:Dip2b	APN	15	100,113,192 (GRCm39)	missense	probably damaging	0.98
IGL02983:Dip2b	APN	15	100,029,903 (GRCm39)	missense	possibly damaging	0.81
IGL03120:Dip2b	APN	15	100,101,008 (GRCm39)	splice site	probably benign
IGL03181:Dip2b	APN	15	100,113,088 (GRCm39)	missense	probably damaging	0.98
IGL03229:Dip2b	APN	15	100,105,719 (GRCm39)	splice site	probably benign
IGL03399:Dip2b	APN	15	100,073,208 (GRCm39)	missense	possibly damaging	0.63
PIT4131001:Dip2b	UTSW	15	100,100,233 (GRCm39)	missense	probably damaging	1.00
R0009:Dip2b	UTSW	15	100,067,193 (GRCm39)	missense	probably damaging	1.00
R0058:Dip2b	UTSW	15	100,113,121 (GRCm39)	missense	probably benign	0.03
R0058:Dip2b	UTSW	15	100,113,121 (GRCm39)	missense	probably benign	0.03
R0092:Dip2b	UTSW	15	100,100,146 (GRCm39)	missense	probably damaging	1.00
R0201:Dip2b	UTSW	15	100,084,028 (GRCm39)	missense	probably damaging	0.98
R0359:Dip2b	UTSW	15	100,109,874 (GRCm39)	missense	probably damaging	0.98
R0390:Dip2b	UTSW	15	100,091,794 (GRCm39)	missense	probably damaging	0.99
R0564:Dip2b	UTSW	15	100,060,600 (GRCm39)	nonsense	probably null
R0730:Dip2b	UTSW	15	100,069,532 (GRCm39)	missense	probably damaging	1.00
R1144:Dip2b	UTSW	15	100,052,131 (GRCm39)	missense	probably benign	0.11
R1200:Dip2b	UTSW	15	100,107,626 (GRCm39)	missense	probably benign	0.00
R1506:Dip2b	UTSW	15	100,080,994 (GRCm39)	missense	probably damaging	1.00
R1750:Dip2b	UTSW	15	100,076,347 (GRCm39)	missense	probably benign
R1760:Dip2b	UTSW	15	100,109,910 (GRCm39)	missense	probably damaging	1.00
R1773:Dip2b	UTSW	15	100,091,842 (GRCm39)	missense	probably benign	0.00
R1812:Dip2b	UTSW	15	100,096,819 (GRCm39)	splice site	probably null
R2264:Dip2b	UTSW	15	100,101,097 (GRCm39)	missense	probably benign	0.05
R3105:Dip2b	UTSW	15	100,040,018 (GRCm39)	nonsense	probably null
R4029:Dip2b	UTSW	15	100,084,053 (GRCm39)	missense	probably damaging	1.00
R4030:Dip2b	UTSW	15	100,084,053 (GRCm39)	missense	probably damaging	1.00
R4296:Dip2b	UTSW	15	100,079,217 (GRCm39)	missense	probably benign
R4392:Dip2b	UTSW	15	100,059,917 (GRCm39)	missense	probably damaging	1.00
R4480:Dip2b	UTSW	15	100,084,182 (GRCm39)	missense	probably damaging	0.99
R4564:Dip2b	UTSW	15	100,055,139 (GRCm39)	nonsense	probably null
R4605:Dip2b	UTSW	15	100,107,517 (GRCm39)	missense	probably benign	0.00
R4606:Dip2b	UTSW	15	100,113,210 (GRCm39)	missense	possibly damaging	0.91
R4634:Dip2b	UTSW	15	100,058,372 (GRCm39)	missense	probably damaging	1.00
R4667:Dip2b	UTSW	15	100,049,241 (GRCm39)	missense	probably benign	0.01
R4739:Dip2b	UTSW	15	100,105,658 (GRCm39)	missense	probably damaging	0.98
R4826:Dip2b	UTSW	15	100,067,162 (GRCm39)	missense	probably damaging	0.99
R4870:Dip2b	UTSW	15	100,093,665 (GRCm39)	splice site	probably null
R4877:Dip2b	UTSW	15	100,058,410 (GRCm39)	missense	possibly damaging	0.49
R4932:Dip2b	UTSW	15	100,069,603 (GRCm39)	missense	probably damaging	1.00
R5009:Dip2b	UTSW	15	100,093,665 (GRCm39)	splice site	probably null
R5169:Dip2b	UTSW	15	100,102,994 (GRCm39)	missense	probably damaging	1.00
R5216:Dip2b	UTSW	15	100,109,867 (GRCm39)	missense	probably damaging	1.00
R5218:Dip2b	UTSW	15	100,052,177 (GRCm39)	missense	probably benign	0.00
R5274:Dip2b	UTSW	15	100,109,985 (GRCm39)	missense	possibly damaging	0.54
R5370:Dip2b	UTSW	15	100,109,867 (GRCm39)	missense	probably damaging	1.00
R5420:Dip2b	UTSW	15	100,103,054 (GRCm39)	intron	probably benign
R5447:Dip2b	UTSW	15	100,109,867 (GRCm39)	missense	probably damaging	1.00
R5670:Dip2b	UTSW	15	100,087,985 (GRCm39)	missense	possibly damaging	0.80
R5768:Dip2b	UTSW	15	100,055,826 (GRCm39)	missense	probably benign	0.32
R5908:Dip2b	UTSW	15	100,049,065 (GRCm39)	missense	possibly damaging	0.93
R5957:Dip2b	UTSW	15	100,107,575 (GRCm39)	missense	probably benign	0.03
R5987:Dip2b	UTSW	15	100,087,960 (GRCm39)	missense	probably damaging	1.00
R6260:Dip2b	UTSW	15	100,060,583 (GRCm39)	missense	probably benign	0.05
R6325:Dip2b	UTSW	15	100,052,163 (GRCm39)	missense	probably benign	0.00
R6367:Dip2b	UTSW	15	100,013,795 (GRCm39)	missense	possibly damaging	0.50
R6391:Dip2b	UTSW	15	100,049,157 (GRCm39)	missense	probably damaging	1.00
R6422:Dip2b	UTSW	15	100,096,892 (GRCm39)	missense	probably damaging	0.98
R6818:Dip2b	UTSW	15	100,091,835 (GRCm39)	missense	probably benign	0.09
R6922:Dip2b	UTSW	15	100,091,724 (GRCm39)	missense	probably benign	0.25
R7002:Dip2b	UTSW	15	100,058,346 (GRCm39)	missense	probably benign	0.43
R7076:Dip2b	UTSW	15	100,055,853 (GRCm39)	splice site	probably null
R7176:Dip2b	UTSW	15	100,067,199 (GRCm39)	missense	probably damaging	1.00
R7255:Dip2b	UTSW	15	100,107,508 (GRCm39)	missense	probably benign	0.00
R7463:Dip2b	UTSW	15	100,052,038 (GRCm39)	missense	probably benign
R7513:Dip2b	UTSW	15	100,105,629 (GRCm39)	splice site	probably null
R7876:Dip2b	UTSW	15	100,088,922 (GRCm39)	missense	probably benign	0.02
R9289:Dip2b	UTSW	15	100,071,152 (GRCm39)	missense	probably damaging	0.97
R9405:Dip2b	UTSW	15	100,093,757 (GRCm39)	missense	probably benign	0.05
R9477:Dip2b	UTSW	15	99,936,784 (GRCm39)	missense	probably damaging	1.00
R9485:Dip2b	UTSW	15	100,052,924 (GRCm39)	missense	probably benign	0.05
R9533:Dip2b	UTSW	15	100,073,178 (GRCm39)	missense	probably benign	0.06
R9581:Dip2b	UTSW	15	100,079,255 (GRCm39)	missense	probably damaging	0.99
R9666:Dip2b	UTSW	15	100,107,461 (GRCm39)	missense	probably damaging	1.00
X0064:Dip2b	UTSW	15	100,013,731 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTCAAAAGCAATGGGTGTAG -3'
(R):5'- TTCTGTGAAAGCCAACCATGAAC -3'

Sequencing Primer
(F):5'- GAAGTGGTTCCCTTTACTGTCAGTAC -3'
(R):5'- GCTCCACATAGTGATGAGTGACC -3'

Posted On

2020-09-02